D118N (p.Asp118Asn) variant of TBK1 (Q9UHD2)
D118N (p.Asp118Asn) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D118N (p.Asp118Asn) variant details
- p.Asp118Asn
- rs200879808
- ClinGen CA6668770
- ClinVar RCV002283871
- 1000Genomes rs200879808
- Likely pathogenic
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.13
- CADD 24.20
- PolyPhen-2 0.68
- SIFT 0.19
- ClinVar: Likely pathogenic (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)